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Genomics|Features|Down Syndrome

Down Syndrome

World Down Syndrome Day - August 13, 2015

Disappearing Down syndrome, genetic counseling, and textbook coverage by R Lewis, PLoS Blogs, Aug 13

National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne J et al. Am. J. Med. Genet. A 2015 Aug 6.

CDC information on World Down Syndrome Day: Raising awareness

A genomic approach to study down syndrome and cancer inverse comorbidity: untangling the chromosome 21.
Forés-Martos J et al. Front Physiol 2015 10

NIPT-based screening for Down syndrome and beyond: what do pregnant women think?
van Schendel RV et al. Prenat. Diagn. 2015 Feb 19.

Accelerated epigenetic aging in Down syndrome.
Horvath S et al. Aging Cell 2015 Feb 9.

Incidence of febrile seizure in patients with Down syndrome.
Shimakawa S et al. Pediatr Int 2015 Feb 13.

Screening for hypothyroidism in Down syndrome using the capillary thyroid stimulating hormone method.
McGowan S et al. J. Pediatr. 2015 Jan 31.

Sleep-disordered breathing in Down syndrome.
Lal C et al. Chest 2015 Feb (2) 570-9

Congenital heart disease: Causes, diagnosis, symptoms, and treatments.
Sun RR et al. Cell Biochem. Biophys. 2015 Feb 1.

Enhancing oral and written language for adolescents and young adults with Down syndrome.
Pelatti CY et al. Semin Speech Lang 2015 Feb (1) 50-9

Children with Down syndrome are high-risk for severe respiratory syncytial virus disease.
Stagliano DR et al. J. Pediatr. 2015 Mar (3) 703-709.e2

Genome-wide microRNA expression profiling in placentas of fetuses with Down syndrome.
Lim JH et al. Placenta 2015 Mar (3) 322-8

Information and knowledge about Down syndrome among women and partners after first trimester combined testing.
Ternby E et al. Acta Obstet Gynecol Scand 2015 Mar (3) 329-32

Down Syndrome: Registry and Recent Insights - January 28, 2015

CDC information: Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body

NIH launches tool to advance Down syndrome research, Jan 27

DS-Connect®: The Down Syndrome Registry

Pharmacological approaches to improving cognitive function in Down syndrome: current status and considerations.
Gardiner KJ. Drug Des Devel Ther. 2014 Dec 17;9:103-125.

Is apolipoprotein E4 an important risk factor for dementia in persons with Down syndrome?
Rohn TT, et al. J Parkinsons Dis Alzheimers Dis. 2014 Dec 8;1(1).

The prevalence of congenital hearing loss in neonates with Down syndrome.
Tedeschi AS, et al. J Pediatr. 2015 Jan;166(1):168-171

Mosaicism for trisomy 21: A review.
Papavassiliou P, et al. Am J Med Genet A. 2015 Jan;167(1):26-39

Providing information about prenatal screening for Down syndrome: a systematic review.
Skjøth MM, et al. Acta Obstet Gynecol Scand. 2015 Feb;94(2):125-32.

Care of the adult patient with Down syndrome.
Ross WT, et al. South Med J. 2014 Nov;107(11):715-21.

Down Syndrome Awareness Month: Genetics and Public Health - October 9, 2014

CDC information:  Each year, about 6,000 babies born in the United States have Down syndrome. Down syndrome is the most common chromosomal condition diagnosed in newborns in the United States

CDC information: Facts about Down Syndrome 

CDC data and statistics on Down Syndrome

New research: A recent article examined the differences in hospital resource use between children with Down syndrome who also had another major birth defect, mainly congenital heart defects, and children with Down syndrome who did not have another major birth defect.  This study provides useful information for evaluating patterns of hospital resource use and associated costs for children with Down syndrome. Read the Key Findings to the article.

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma. 
Gekas J, et al. Appl Clin Genet. 2014 Jul 7;7:127-31.

Domains of genome-wide gene expression dysregulation in Down's syndrome. 
Audrey Letourneau, et al. Nature, (2014)